|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
| Entrez Id: |
2475 |
| Gene Symbol: |
MTOR |
MTOR
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
|
27159400 |
2016 |
|
| Entrez Id: |
25880 |
| Gene Symbol: |
TMEM186 |
TMEM186
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
51807 |
| Gene Symbol: |
TUBA8 |
TUBA8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2736 |
| Gene Symbol: |
GLI2 |
GLI2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51091 |
| Gene Symbol: |
SEPSECS |
SEPSECS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
RNASEH2C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1476 |
| Gene Symbol: |
CSTB |
CSTB
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5915 |
| Gene Symbol: |
RARB |
RARB
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8560 |
| Gene Symbol: |
DEGS1 |
DEGS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8820 |
| Gene Symbol: |
HESX1 |
HESX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54551 |
| Gene Symbol: |
MAGEL2 |
MAGEL2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5190 |
| Gene Symbol: |
PEX6 |
PEX6
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1528 |
| Gene Symbol: |
CYB5A |
CYB5A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10436 |
| Gene Symbol: |
EMG1 |
EMG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2074 |
| Gene Symbol: |
ERCC6 |
ERCC6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2073 |
| Gene Symbol: |
ERCC5 |
ERCC5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4915 |
| Gene Symbol: |
NTRK2 |
NTRK2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5449 |
| Gene Symbol: |
POU1F1 |
POU1F1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51 |
| Gene Symbol: |
ACOX1 |
ACOX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|